ClinVar Miner

Submissions for variant NM_000391.4(TPP1):c.229G>C (p.Gly77Arg) (rs121908195)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673684 SCV000798914 likely pathogenic Ceroid lipofuscinosis neuronal 2 2018-03-29 criteria provided, single submitter clinical testing
GeneDx RCV000189757 SCV000243405 pathogenic not provided 2012-04-12 criteria provided, single submitter clinical testing p.Gly77Arg (GGA>CGA): c.229 G>C in exon 3 in the TPP1 gene (NM_000391.3) has been reported previously in association with late-infantile neuronal ceroid lipofuscinosis (LINCL) (Sleat et al., 1999). The Gly77Arg mutation alters a highly conserved position in the pro-segment of the TPP1 protein, and in vitro functional studies indicate that this mutation impairs protein folding and significantly reduces TPP1 enzyme activity (Walus et al., 2010). We interpret G77R as a disease-causing mutation. The variant is found in EPILEPSY panel(s).

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.